结节性硬化症教材分析.pptVIP

Note that 10% to 25% of TSC patients have no mutation identified by conventional genetic testing, and a normal result does not exclude TSC, or have any effect on the use of clinical diagnostic criteria to diagnose TSC. * * This will facilitate the diagnosis of TSC in some, particularly young individuals, earlier implementation of surveillance and treatment with potential for better clinical outcomes. * * clinical diagnostic criteria * * 11 major features 6 minor features * * 1. Hypomelanotic macules (≥3, at least 5-mm diameter) 2. Angiofibromas (≥3) or fibrous cephalic plaque 3. Ungual